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  Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature

Busche, A., Graul-Neumann, L. M., Zweier, C., Rauch, A., Klopocki, E., & Horn, D. (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet, 54(3), 256-61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21333765 http://pdn.sciencedirect.com/science?_ob=MiamiImageURL&_cid=273314&_user=28761&_pii=S1769721211000206&_check=y&_origin=article&_zone=toolbar&_coverDate=30-Jun-2011&view=c&originContentFamily=serial&wchp=dGLbVlk-zSkzV&md5=0215eb57063c1ecc3f2fec72c06fc114/1-s2.0-S1769721211000206-main.pdf.

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Busche, A., Author
Graul-Neumann, L. M., Author
Zweier, C., Author
Rauch, A., Author
Klopocki, E.1, Author              
Horn, D., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Abnormalities, Multiple/genetics/pathology; Adolescent; Child, Preschool; *Chromosome Deletion; Chromosomes, Human, Pair 7/*genetics; Comparative Genomic Hybridization; Face/*abnormalities; Female; Growth Disorders/*pathology; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Microcephaly/*pathology; Nuclear Proteins/*genetics; Syndrome; Twist Transcription Factor/*genetics
 Abstract: Saethre-Chotzen syndrome due to TWIST1 mutations is characterized by coronal synostosis, facial dysmorphism and additional variable anomalies. Small deletions comprising the whole TWIST1 account for a small proportion of patients with Saethre-Chotzen syndrome. Here we describe 3 patients with facial dysmorphism, marked microcephaly, short stature (2/3 patients), and overlapping 7p21 microdeletions. Molecular karyotyping identified small deletions of chromosome 7p21 including TWIST1 with a size of 526 kb, 9.2 Mb, and 11.7 Mb, respectively. The clinical manifestations of these patients do not resemble the typical phenotype of Saethre-Chotzen syndrome. In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome.

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Title: Eur J Med Genet
Source Genre: Journal
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Pages: - Volume / Issue: 54 (3) Sequence Number: - Start / End Page: 256 - 61 Identifier: ISSN: 1878-0849 (Electronic) 1769-7212 (Linking)